Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

Abstract Background Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and molecular characteristics of infantile-onset Pompe disease (IOPD) in...

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Main Authors: Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti
Format: Article
Language:English
Published: BMC 2019-09-01
Series:BMC Medical Genetics
Subjects:
Lysosomal strorage disorder
Pompe disease
Glycogen storage disease type II
Acid alpha glucosidase
GAA
Online Access:http://link.springer.com/article/10.1186/s12881-019-0878-8

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